Abstract
Introduction: Although maternal microchimerism has been implicated in various disorders in children, its association with the risk of 46,XY disorders of sex development remains unknown. METHODS: We studied 22 boys with hypospadias using highly sensitive quantitative PCR assays. In seven cases with additional anomalies, microarray-based comparative genomic hybridization and whole-exome sequencing confirmed the lack of apparent pathogenic variants. RESULTS: Maternal microchimeric cells were detected in 2 patients (1.9 and 32.0 cells per 106 total cells). The results were comparable to our reference data. CONCLUSION: This study argues against the significant role of maternal microchimerism in the risk of hypospadias.
.